keyword
MENU ▼
Read by QxMD icon Read
search

MUTYH

keyword
https://www.readbyqxmd.com/read/29766397/novel-variant-of-unknown-significance-in-mutyh-in-a-patient-with-mutyh-associated-polyposis-a-case-to-reclassify
#1
Trilokesh D Kidambi, Dena Goldberg, Robert Nussbaum, Amie Blanco, Sarah E Umetsu, Jonathan P Terdiman, Jeffrey K Lee
MUTYH-associated polyposis (MAP) is a hereditary cancer syndrome that is caused by biallelic pathogenic variants in the MUTYH gene and should be evaluated for in patients with an attenuated colonic polyposis phenotype. Monoallelic pathogenic variants in MUTYH are associated with a moderate increased risk of colorectal cancer but not with the polyposis phenotype. We present a case of a patient presenting with multiple colonic adenomatous polyps, whose germline testing revealed a heterozygous pathogenic variant in MUTYH in exon 13, c...
May 15, 2018: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/29746250/cellular-assays-for-studying-the-fe-s-cluster-containing-base-excision-repair-glycosylase-mutyh-and-homologs
#2
Chandrima Majumdar, Nicole N Nuñez, Alan G Raetz, Cindy Khuu, Sheila S David
Many DNA repair enzymes, including the human adenine glycosylase MUTYH, require iron-sulfur (Fe-S) cluster cofactors for DNA damage recognition and subsequent repair. MUTYH prokaryotic and eukaryotic homologs are a family of adenine (A) glycosylases that cleave A when mispaired with the oxidatively damaged guanine lesion, 8-oxo-7,8-dihydroguanine (OG). Faulty OG:A repair has been linked to the inheritance of missense mutations in the MUTYH gene. These inherited mutations can result in the onset of a familial colorectal cancer disorder known as MUTYH-associated polyposis (MAP)...
2018: Methods in Enzymology
https://www.readbyqxmd.com/read/29746241/fe-s-clusters-and-muty-base-excision-repair-glycosylases-purification-kinetics-and-dna-affinity-measurements
#3
Nicole N Nuñez, Chandrima Majumdar, Kori T Lay, Sheila S David
A growing number of iron-sulfur (Fe-S) cluster cofactors have been identified in DNA repair proteins. MutY and its homologs are base excision repair (BER) glycosylases that prevent mutations associated with the common oxidation product of guanine (G), 8-oxo-7,8-dihydroguanine (OG) by catalyzing adenine (A) base excision from inappropriately formed OG:A mispairs. The finding of an [4Fe-4S]2+ cluster cofactor in MutY, Endonuclease III, and structurally similar BER enzymes was surprising and initially thought to represent an example of a purely structural role for the cofactor...
2018: Methods in Enzymology
https://www.readbyqxmd.com/read/29737460/association-between-ogg1-s326c-cc-genotype-and-elevated-relapse-risk-in-acute-myeloid-leukemia
#4
Nanami Gotoh, Takayuki Saitoh, Noriyuki Takahashi, Tetsuhiro Kasamatsu, Yusuke Minato, Alkebsi Lobna, Tsukasa Oda, Takumi Hoshino, Toru Sakura, Hiroaki Shimizu, Makiko Takizawa, Hiroshi Handa, Akihiko Yokohama, Norifumi Tsukamoto, Hirokazu Murakami
Recent studies have shown that tumors of relapsed acute myeloid leukemia (AML) present additional genetic mutations compared to the primary tumors. The base excision repair (BER) pathway corrects oxidatively damaged mutagenic bases and plays an important role in maintaining genetic stability. The purpose of the present study was to investigate the relationship between BER functional polymorphisms and AML relapse. We focused on five major polymorphisms: OGG1 S326C, MUTYH Q324H, APE1 D148E, XRCC1 R194W, and XRCC1 R399Q...
May 8, 2018: International Journal of Hematology
https://www.readbyqxmd.com/read/29727754/genomic-instability-in-adult-men-involved-in-processing-electronic-waste-in-northern-china
#5
Yan Wang, Xiaohui Sun, Lianying Fang, Keqiu Li, Ping Yang, Liqing Du, Kaihua Ji, Jinhan Wang, Qiang Liu, Chang Xu, Guang Li, John P Giesy, Markus Hecker
BACKGROUND: Managing and recycling electronic waste (e-waste), while useful and necessary, has resulted in significant contamination of several environments in China. The area around Tianjin, China has become one of the world's largest e-waste disposal centers, where electronics are processed by manually disassembly or burning, which can result in serious exposure of workers to a multitude of toxicants. OBJECTIVE: The present study assessed potential genomic damage in workers involved in recycling e-waste...
May 1, 2018: Environment International
https://www.readbyqxmd.com/read/29702101/the-impact-of-chromoendoscopy-for-surveillance-of-the-duodenum-in-patients-with-mutyh-associated-polyposis-and-familial-adenomatous-polyposis
#6
Joanna J Hurley, Laura E Thomas, Sarah-Jane Walton, Siwan Thomas-Gibson, Adam Haycock, Noriko Suzuki, Matthew Mort, Geraint Williams, Meleri Morgan, Susan K Clark, Julian R Sampson, Sunil Dolwani
BACKGROUND AND AIMS: Duodenal polyposis and cancer have become a key issue for patients with familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP). Almost all patients with FAP will develop duodenal adenomas, with 5% developing cancer. The incidence of duodenal adenomas in MAP appears to be lower than in FAP but the limited available data suggest a comparable increase in the relative risk and lifetime risk of duodenal cancer. Current surveillance recommendations, however, are the same for FAP and MAP, using the Spigelman score--incorporating polyp number, size, dysplasia, and histology--for risk stratification and determination of surveillance intervals...
April 24, 2018: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/29684080/unexpected-cancer-predisposition-gene-variants-in-cowden-syndrome-and-bannayan-riley-ruvalcaba-syndrome-patients-without-underlying-germline-pten-mutations
#7
Lamis Yehia, Ying Ni, Kaitlin Sesock, Farshad Niazi, Benjamin Fletcher, Hannah Jin Lian Chen, Thomas LaFramboise, Charis Eng
Patients with heritable cancer syndromes characterized by germline PTEN mutations (termed PTEN hamartoma tumor syndrome, PHTS) benefit from PTEN-enabled cancer risk assessment and clinical management. PTEN-wildtype patients (~50%) remain at increased risk of developing certain cancers. Existence of germline mutations in other known cancer susceptibility genes has not been explored in these patients, with implications for different medical management. We conducted a 4-year multicenter prospective study of incident patients with features of Cowden/Cowden-like (CS/CS-like) and Bannayan-Riley-Ruvalcaba syndromes (BRRS) without PTEN mutations...
April 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29669465/superiority-of-rat-over-murine-model-for-studies-on-the-evolution-of-cancer-genome
#8
Shinya Akatsuka, Guang Hua Li, Shinya Toyokuni
Evolution of the species and carcinogenesis are similar in that genomic alterations are the key events. Oxidative stress derived from various etiologies is one of the major causes of carcinogenesis by inducing mutations in the genome. Persistent oxidative stress in the renal proximal tubules through Fenton reaction catalyzed by ferric nitrilotriacetate (Fe-NTA) generates renal cell carcinoma (RCC) in mice and rats. Here, in order to observe the species difference in oxidative stress-induced carcinogenesis and to obtain an insight regarding the characteristics of each species, we compared the genomic alterations using array-based comparative genome hybridization among RCCs in Mutyh knockout/wild-type mice (C57BL/6 background) induced by Fe-NTA, RCCs in F1 hybrids of Brown-Norway/Fischer-344 wild-type rats and clear cell renal cell carcinoma (CCRCC)/papillary renal cell carcinoma (PRCC) of humans...
April 18, 2018: Free Radical Research
https://www.readbyqxmd.com/read/29664240/polymorphisms-of-dna-repair-genes-are-associated-with-colorectal-cancer-in-patients-with-lynch-syndrome
#9
Abram B Kamiza, Ling-Ling Hsieh, Reiping Tang, Huei-Tzu Chien, Chih-Hsiung Lai, Li-Ling Chiu, Tsai-Ping Lo, Kuan-Yi Hung, Jeng-Fu You, Wen-Chang Wang, Chao A Hsiung, Chih-Ching Yeh
BACKGROUND: DNA repair genes are crucial for maintaining genomic stability by preventing mutagenesis and carcinogenesis. The present retrospective cohort study aimed at investigating whether MLH1, APEX1, MUTYH, OGG1, NUDT1, XRCC5, XPA, and ERCC2 single nucleotide polymorphisms (SNPs) are associated with colorectal cancer (CRC) in Chinese population with Lynch syndrome. METHODS: From Amsterdam criteria family registry, we identified 270 patients with Lynch syndrome...
April 17, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29629316/management-of-functional-neuroendocrine-tumors-of-the-pancreas
#10
REVIEW
Kjell Öberg
Pancreatic neuroendocrine tumors (pNETs) constitute a heterogenous group of malignancies with varying clinical presentation, tumor biology and prognosis. The incidence of pNETs has steadily increased during the last decades with an estimated incidence 2012 of 4.8/100,000. Recent whole genome sequencing of pNETs has demonstrated mutations in the DNA repair genes MUTYH and point mutations and gene fusions in four main pathways from chromatin remodeling, DNA damage repair, activation of mechanistic target of rapamycin (mTOR) signaling and the telomere maintenance...
February 2018: Gland Surgery
https://www.readbyqxmd.com/read/29610499/phenotypic-variability-of-mutyh-associated-polyposis-in-monozygotic-twins-and-endoscopic-resection-of-a-giant-polyp-in-pregnancy
#11
Markus Casper, Isabel Spier, Robert Holz, Stefan Aretz, Frank Lammert
No abstract text is available yet for this article.
April 2018: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/29587570/mutyh-and-orai1-polymorphisms-are-associated-with-susceptibility-to-osteoarthritis-in-the-chinese-han-population
#12
Shifeng Zhang, Haohui Guo, Da Chen, Xi Chen, Qunhua Jin
Background This study analyzed the associations between single nucleotide polymorphisms (SNPs) in the mutY homolog gene ( MUTYH) and the calcium release-activated calcium channel gene ( ORAI1) with susceptibility to osteoarthritis in the Chinese Han population. Methods A total of 350 patients diagnosed with osteoarthritis from October 2013 to May 2016 were selected as the study group, together with 350 age- and gender-matched healthy controls. MUTYH SNP rs3219463 and ORAI1 SNPs rs712853, rs12313273, rs6486795, rs12320939, and rs7135617 were analyzed by Sanger sequencing...
January 1, 2018: Journal of International Medical Research
https://www.readbyqxmd.com/read/29406563/spectrum-of-apc-and-mutyh-germ-line-mutations-in-russian-patients-with-colorectal-malignancies
#13
G A Yanus, T A Akhapkina, A O Ivantsov, E V Preobrazhenskaya, S N Aleksakhina, I V Bizin, A P Sokolenko, N V Mitiushkina, E Sh Kuligina, E N Suspitsin, A R Venina, M M Holmatov, O A Zaitseva, O S Yatsuk, D V Pashkov, A M Belyaev, A V Togo, E N Imyanitov, A G Iyevleva
Distribution of cancer-predisposing mutations demonstrates significant interethnic variations. This study aimed to evaluate patterns of APC and MUTYH germ-line mutations in Russian patients with colorectal malignancies. APC gene defects were identified in 26/38 (68%) subjects with colon polyposis; 8/26 (31%) APC mutations were associated with 2 known mutational hotspots (p.E1309Dfs*4 [n = 5] and p.Q1062fs* [n = 3]), while 6/26 (23%) mutations were novel (p.K73Nfs*6, p.S254Hfs*12, p.S1072Kfs*9, p.E1547Kfs*11, p...
May 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29371908/genetic-variants-of-prospectively-demonstrated-phenocopies-in-brca1-2-kindreds
#14
Mev Dominguez-Valentin, D Gareth R Evans, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller, Eivind Hovig
Background: In kindreds carrying path_BRCA1/2 variants, some women in these families will develop cancer despite testing negative for the family's pathogenic variant. These families may have additional genetic variants, which not only may increase the susceptibility of the families' path_BRCA1/2, but also be capable of causing cancer in the absence of the path_BRCA1/2 variants. We aimed to identify novel genetic variants in prospectively detected breast cancer (BC) or gynecological cancer cases tested negative for their families' pathogenic BRCA1/2 variant ( path_BRCA1 or path_BRCA2 )...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29367705/somatic-apc-mosaicism-and-oligogenic-inheritance-in-genetically-unsolved-colorectal-adenomatous-polyposis-patients
#15
Michele Ciavarella, Sara Miccoli, Anna Prossomariti, Tommaso Pippucci, Elena Bonora, Francesco Buscherini, Flavia Palombo, Roberta Zuntini, Tiziana Balbi, Claudio Ceccarelli, Franco Bazzoli, Luigi Ricciardiello, Daniela Turchetti, Giulia Piazzi
Germline variants in the APC gene cause familial adenomatous polyposis. Inherited variants in MutYH, POLE, POLD1, NTHL1, and MSH3 genes and somatic APC mosaicism have been reported as alternative causes of polyposis. However, ~30-50% of cases of polyposis remain genetically unsolved. Thus, the aim of this study was to investigate the genetic causes of unexplained adenomatous polyposis. Eight sporadic cases with >20 adenomatous polyps by 35 years of age or >50 adenomatous polyps by 55 years of age, and no causative germline variants in APC and/or MutYH, were enrolled from a cohort of 56 subjects with adenomatous colorectal polyposis...
January 24, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29330641/characteristics-of-mutyh-variants-in-japanese-colorectal-polyposis-patients
#16
Misato Takao, Tatsuro Yamaguchi, Hidetaka Eguchi, Yuhki Tada, Masakazu Kohda, Koichi Koizumi, Shin-Ichiro Horiguchi, Yasushi Okazaki, Hideyuki Ishida
BACKGROUND: The base excision repair gene MUTYH is the causative gene of colorectal polyposis syndrome, which is an autosomal recessive disorder associated with a high risk of colorectal cancer. Since few studies have investigated the genotype-phenotype association in Japanese patients with MUTYH variants, the aim of this study was to clarify the clinicopathological findings in Japanese patients with MUTYH gene variants who were detected by screening causative genes associated with hereditary colorectal polyposis...
January 12, 2018: International Journal of Clinical Oncology
https://www.readbyqxmd.com/read/29289706/an-engineered-cell-line-lacking-ogg1-and-mutyh-glycosylases-implicates-the-accumulation-of-genomic-8-oxoguanine-as-the-basis-for-paraquat-mutagenicity
#17
Preechaya Tajai, Bogdan I Fedeles, Tawit Suriyo, Panida Navasumrit, Jantamas Kanitwithayanun, John M Essigmann, Jutamaad Satayavivad
Paraquat (1,1'-dimethyl, 4,4'-bipyridinium dichloride; PQ), a widely used herbicide, is toxic to mammals through ingestion, inhalation and skin contact. Epidemiological data suggest that PQ is also mutagenic and carcinogenic, especially in high doses. The toxic and mutagenic properties of PQ are attributed to the ability of the molecule to redox-cycle, which generates reactive oxygen species (ROS) and subsequent oxidative stress. ROS also cause oxidative DNA damage such as 8-oxoguanine (8OG), a mutagenic base that, when replicated, causes G to T transversion mutations...
February 20, 2018: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/29279706/metachronous-and-synchronous-occurrence-of-5-primary-malignancies-in-a-female-patient-between-1997-and-2013-a-case-report-with-germline-and-somatic-genetic-analysis
#18
Jenny Nyqvist, Fredrik Persson, Toshima Z Parris, Khalil Helou, Elisabeth Kenne Sarenmalm, Zakaria Einbeigi, Åke Borg, Per Karlsson, Anikó Kovács
The number of patients with multiple primary malignancies has been increasing steadily in recent years. In the present study, we describe a unique case of an 81-year-old woman with 5 metachronous and synchronous primary malignant neoplasms. The patient was first diagnosed with an endometrium adenocarcinoma in 1997 and a colon adenocarcinoma in 2002. Eleven years after her colon surgery, in 2013, the patient presented with 3 other primary malignancies within a 4-month time span: an invasive malignant melanoma on the lower leg, an invasive mucinous breast carcinoma in the right breast, and a pleomorphic spindle cell sarcoma on the left upper arm...
September 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/29215473/duodenal-adenomas-in-patients-with-multiple-colorectal-adenomas-without-germline-apc-or-mutyh-mutations
#19
MULTICENTER STUDY
Frank G J Kallenberg, Andrew Latchford, Nikki C Lips, Cora M Aalfs, Barbara A J Bastiaansen, Susan K Clark, Evelien Dekker
BACKGROUND: Patients with genetic adenomatous polyposis syndromes have an increased risk for duodenal cancer, and clear surveillance recommendations exist for this group. However, limited data are available on the duodenal phenotype of patients with multiple colorectal adenomas (10-99) without a germline APC or MUTYH mutation. OBJECTIVE: We aimed to assess the frequency, extent, and progression of duodenal adenomas in patients with multiple colorectal adenomas without a germline APC or MUTYH mutation...
January 2018: Diseases of the Colon and Rectum
https://www.readbyqxmd.com/read/29209987/genetic-investigation-of-polymorphic-ogg1-and-mutyh-genes-towards-increased-susceptibility-in-lung-adenocarcinoma-and-its-impact-on-overall-survival-of-lung-cancer-patients-treated-with-platinum-based-chemotherapy
#20
Amrita Singh, Navneet Singh, Digambar Behera, Siddharth Sharma
Genes OGG1 and MUTYH are the two primary genes in Base excision repair pathway. OGG1 hydrolyzes the sugar phosphate backbone and remove the damaged base creating abasic site. MUTYH complements OGG1 as it particularly remove adenine mispaired with 8-oxo-G. Both OGG1 and MUTYH act as a check for the mis-incorporation of bases may be due to damages incurred on DNA. DNA isolation for 326 lung cancer cases and 330 controls was followed by genotyping making use of PCR-RFLP. Logistic regression was done to analyze the risk towards lung cancer...
December 5, 2017: Pathology Oncology Research: POR
keyword
keyword
116614
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"